Canonical Allele Identifier: CA731338319

Gene: USH2A

Linked Data

• dbSNP Id: rs1467179401
• gnomAD v3: 1-215781897-T-G
• gnomAD v4: 1-215781897-T-G
• MyVariant Identifiers: chr1:g.215955239T>G (hg19) ; chr1:g.215781897T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215781897T>G , CM000663.2:g.215781897T>G	GRCh38
NC_000001.10:g.215955239T>G , CM000663.1:g.215955239T>G	GRCh37
NC_000001.9:g.214021862T>G	NCBI36
NG_009497.1:g.646500A>C
NG_009497.2:g.646552A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10740+145A>C MANE Select	ENSP00000305941.3:n.10740+145A>C
ENST00000674083.1:c.10740+145A>C	ENSP00000501296.1:n.10740+145A>C
ENST00000307340.7:c.10740+145A>C	ENSP00000305941.3:n.10740+145A>C
NM_206933.2:c.10740+145A>C	NP_996816.2:n.10740+145A>C
NM_206933.3:c.10740+145A>C	NP_996816.2:n.10740+145A>C
NM_206933.4:c.10740+145A>C MANE Select	NP_996816.3:n.10740+145A>C